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Biomedical subjects

V Klujber

Publications and source records attributed to V Klujber.

10 recordsLinked to original sources
PubMed2000

Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome.

We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial dysmorphy, a mild mental retardation, bilaterally undescended testes, cardiac anomalies and a terminally developed, fatal embryonal rhabdomyosarcoma were present in the patient. The decreased activity of the ASM was measured in the patient s skin fibroblasts. This result, with hepatomegaly, mental retardation, feeding problems, a failure to thrive and muscle-hypotony, partially resembled the ASM-deficient forms of Niemann-Pick disease (NPD). Morphological analysis of the bone-marrow cells gave normal results. There was no chromosomal alteration found by conventional karyotyping of the patient s lymphocytes.BWS-associated genes as well as the human ASM gene (SMPD1) are all located at 11p15. DNA-studies by region specific markers as well as mutational analysis for the most common NPD-mutations are planned in the future. This is the first report on the simultaneous occurrence of BWS and ASM-deficiency.

Beckwith-Wiedemann Syndrome↗
PubMed1997

[Late onset type I tyrosinemia].

The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed. She has no singe of rachitis. Cirrhosis of the liver was proved by biopsy because of progressively rising gammaGT and alfa-fetoprotein levels. A new ensime-blocker (NTBC) treatment was started in an international collaboration. The authors compare the history of this case to that of others published in the literature. They summarize the pathomechanism of the disease.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

[Immunophenotyping of childhood leukemias--results of the first 100 bone marrow tests].

The authors used a cell-surface-marker analysis by flow cytometry for immunophenotyping of pediatric leukemia from 1993. Results of their first one-hundred cases were summarized. They examined 68 bone-marrow samples from 58 patients affected by leukemia, and diagnosed 19 acute myeloid leukemia (32%), 5 T-cell acute lymphoid leukemia (8%), 32 B-cell acute lymphoid leukemia (54%) and 2 biphenotypic leukemia (5%). A higher CD34 antigen positivity was found compared to adults. They analysed the incidence and prognostic significance of myeloid + lymphoid leukemia and lymphoid + myeloid leukemia cases. Nondiagnostic and unsuccessful cases were got according to the literature.

Adolescent↗
PubMed1990

[Epidemiology of germinal cell testicular tumor in Hungary].

The data of 1286 testis cancer persons were analyzed by the authors, which were identified in Hungary between 1981 and 1986. The comparison was carried out with international findings in this field. The incidence rate of testis tumor in Hungary reaches a value of 4.16/100,000 men/year, which seems to be quite near to the frequency of cases occurred in Northern-Europe. The patient's age was 32.9 year in the mean at the time of the diagnosis, and the age-specific incidence rate was the highest (11.2) between 25-34 years, according to international experiences. A significant difference was found in the frequency of testis cancer among 19 counties of Hungary. The extremely high testis cancer incidence in the county Vas (West-Hungary) requires further explanations. A seasonal pattern according to the patients birth months was shown, which did not correlate with data of other Hungarian authors concerning seasonal pattern of the undescendent testis.

Adult↗
PubMed1989

[Hereditary pancreatitis].

Attention is drawn to the possible genetic origin of pancreatitis infrequent in childhood. In the case of the authors the diagnosis was supported in the absence of external pathogenic factors by characteristic amino acid excretion which was demonstrable with 8 of the 11 members examined in the family. Genetic relationship is supposed to exist between hereditary pancreatitis and cystin-lysin excretion.

Cystinuria↗
PubMed1989

[Family planning counseling after extrauterine pregnancy].

In the past 30 years the Hungarian incidence of ectopic pregnancies decreased after the maximum in 1961 till the minimum in 1974, however, there was a slight increase after this. The proportion of maternal mortality due to ectopic pregnancies was 8 per cent in 1970-1986. The recurrence risk of ectopic pregnancy is about 12 per cent and about one-third of these women will be infertile. Thus, the appropriate family planning counselling is an important medical task after ectopic pregnancy.

Counseling↗
PubMedDate not supplied

Glucocorticoid-induced apoptosis and treatment sensitivity in acute lymphoblastic leukemia of children.

Sensitivity of leukemic blasts to steroid therapy is one of the prognostic factors in acute lymphoblastic leukemia (ALL) in children. We examined the number of steroid receptors and the increase in the apoptotic index in peripheral blast cells after administration of prednisolone monotherapy in 21 children with ALL. A new diagnostic method was established based on determination of the apoptotic index in peripheral blood lymphoblasts to evaluate the steroid sensitivity of leukemic cells during the first day of therapy. The increase in apoptotic ratio, analyzed by morphologic and/or flow cytometric studies, was most expressed in the first 6 hours of treatment. The apoptotic ratio showed a good correlation with the clinical response. The number of steroid receptors (gcRs) on the blast cells was also examined, but it proved to be less informative than the in vivo steroid response itself.

Adolescent↗